{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25018096"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Cone-rod dystrophy 20, 615973"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25018096","24945461"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Cone-rod dystrophy 20, 615973"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24945461","25044745","25018096","29220607","29377742"],"evidence":["Expert Review Amber","UKGTN","Expert list"],"phenotypes":["Joubert Syndrome","Senior-Loken Syndrome 24 gene panel","Cone-rod dystrophy 20 615973","AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29377742","25044745","29220607","25018096","24945461"],"evidence":["Expert Review Amber","Expert list","UKGTN","Expert Review Amber"],"phenotypes":["Senior-Loken Syndrome 24 gene panel","Cone-rod dystrophy 20 615973","Joubert Syndrome","AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":722,"hash_id":null,"name":"Ophthalmological ciliopathies","disease_group":"","disease_sub_group":"","status":"public","version":"0.11","version_created":"2019-10-02T08:36:04.464711Z","relevant_disorders":[],"stats":{"number_of_genes":89,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Expert Review Amber"],"phenotypes":["Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY","Joubert Syndrome","Senior-Loken Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":724,"hash_id":null,"name":"Neurological ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"0.7","version_created":"2019-10-02T08:39:13.157240Z","relevant_disorders":[],"stats":{"number_of_genes":57,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}